Genetic Modifiers of Fetal Haemoglobin in Sickle Cell Disease

Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene Wet Phase

(2018) Daniel Shriner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Induction of fetal hemoglobin synthesis by CRISPR/Cas9-mediated editing of the human β-globin locus

(2018) Chiara Antoniani et al.   BLOOD

Direct Promoter Repression by BCL11A Controls the Fetal to Adult Hemoglobin Switch

(2018) Nan Liu et al.   CELL

Switching from fetal to adult hemoglobin

(2018) Xunde Wang et al.   NATURE GENETICS

Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding

(2018) Gabriella E. Martyn et al.   NATURE GENETICS

A survey of genetic fetal-haemoglobin modifiers in Nigerian patients with sickle cell anaemia

(2018) Titilope A. Adeyemo et al.   PLoS One

A Plea for the Newborn Diagnosis of Hb S-Hereditary Persistence of Fetal Hemoglobin

(2017) Graham R. Serjeant et al.   HEMOGLOBIN

Long-Term Engraftment and Fetal Globin Induction upon BCL11A Gene Editing in Bone-Marrow-Derived CD34 + Hematopoietic Stem and Progenitor Cells

(2017) Kai-Hsin Chang et al.   Molecular Therapy-Methods & Clinical Development

The role of BCL11A and HMIP-2 polymorphisms on endogenous and hydroxyurea induced levels of fetal hemoglobin in sickle cell anemia patients from southern Brazil

(2016) João Ricardo Friedrisch et al.   BLOOD CELLS MOLECULES AND DISEASES

Reduced rate of sickle-related complications in Brazilian patients carrying HbF-promoting alleles at theBCL11AandHMIP-2loci

(2016) Flávia C. Leonardo et al.   BRITISH JOURNAL OF HAEMATOLOGY

Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease

(2016) Li Liu et al.   EXPERIMENTAL BIOLOGY AND MEDICINE

A genome-editing strategy to treat β-hemoglobinopathies that recapitulates a mutation associated with a benign genetic condition

(2016) Elizabeth A Traxler et al.   NATURE MEDICINE

Genome editing using CRISPR-Cas9 to create the HPFH genotype in HSPCs: An approach for treating sickle cell disease and β-thalassemia

(2016) Lin Ye et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Response to hydroxyurea among Kuwaiti patients with sickle cell disease and elevated baseline HbF levels

(2015) Adekunle Adekile et al.   AMERICAN JOURNAL OF HEMATOLOGY

Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer

(2015) Siana N Mtatiro et al.   BMC Medical Genetics

BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis

(2015) Matthew C. Canver et al.   NATURE

Functional footprinting of regulatory DNA

(2015) Jeff Vierstra et al.   NATURE METHODS

Genetic variants at HbF-modifier loci moderate anemia and leukocytosis in sickle cell disease in Tanzania

(2014) Siana Nkya Mtatiro et al.   AMERICAN JOURNAL OF HEMATOLOGY

Global Genetic Architecture of an Erythroid Quantitative Trait Locus,HMIP-2

(2014) Stephan Menzel et al.   ANNALS OF HUMAN GENETICS

Reactivation of Developmentally Silenced Globin Genes by Forced Chromatin Looping

(2014) Wulan Deng et al.   CELL

Prediction of Fetal Hemoglobin in Sickle Cell Anemia Using an Ensemble of Genetic Risk Prediction Models

(2014) J. N. Milton et al.   Circulation-Cardiovascular Genetics

HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers

(2014) Ralph Stadhouders et al.   JOURNAL OF CLINICAL INVESTIGATION

Association of Variants at BCL11A and HBS1L-MYB with Hemoglobin F and Hospitalization Rates among Sickle Cell Patients in Cameroon

(2014) Ambroise Wonkam et al.   PLoS One

Genome Wide Association Study of Fetal Hemoglobin in Sickle Cell Anemia in Tanzania

(2014) Siana Nkya Mtatiro et al.   PLoS One

Candidate Sequence Variants and Fetal Hemoglobin in Children with Sickle Cell Disease Treated with Hydroxyurea

(2013) Nancy S. Green et al.   PLoS One

An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level

(2013) D. E. Bauer et al.   SCIENCE

A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression

(2011) J. J. Farrell et al.   BLOOD

Rapid and reliable β-globin gene cluster haplotyping of sickle cell disease patients by FRET Light Cycler and HRM assays

(2011) Philippe Joly et al.   CLINICA CHIMICA ACTA

Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients

(2011) Pallav Bhatnagar et al.   JOURNAL OF HUMAN GENETICS

Correction of Sickle Cell Disease in Adult Mice by Interference with Fetal Hemoglobin Silencing

(2011) J. Xu et al.   SCIENCE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation

(2010) Geneviève Galarneau et al.   NATURE GENETICS

Genetic modifiers of HbF and response to hydroxyurea in sickle cell disease

(2010) Nancy S. Green et al.   PEDIATRIC BLOOD & CANCER

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

(2009) Nicole Soranzo et al.   NATURE GENETICS

BCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies

(2008) Amanda E. Sedgewick et al.   BLOOD CELLS MOLECULES AND DISEASES

High-density SNP genotyping to define β-globin locus haplotypes

(2008) L LIU et al.   BLOOD CELLS MOLECULES AND DISEASES

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of  -thalassemia

(2008) M. Uda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DNA polymorphisms at the BCL11A, HBS1L-MYB, and  -globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

(2008) G. Lettre et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA